Variant report

Variant	rs12584738
Chromosome Location	chr13:48668814-48668815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:
2	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
3	chr13:48610643..48613395-chr13:48668732..48670612,2	MCF-7	breast:
4	chr13:48611722..48613362-chr13:48667186..48669052,2	K562	blood:
5	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
6	chr13:48651976..48654376-chr13:48667767..48670618,2	K562	blood:

Variant related genes	Relation type
ENSG00000136146	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11148101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838539	1.00[CHB][hapmap]
rs11840013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840146	1.00[EUR][1000 genomes]
rs11841025	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842190	1.00[EUR][1000 genomes]
rs11842654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427769	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12428782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428797	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429895	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429926	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430608	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12584124	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585232	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585766	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2148247	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296572	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535367	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782979	0.90[CHB][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56670154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58080658	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59447207	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59845585	1.00[EUR][1000 genomes]
rs59991172	1.00[EUR][1000 genomes]
rs60398625	1.00[EUR][1000 genomes]
rs60828855	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61403342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73477042	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73479175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479199	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481207	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481212	1.00[ASN][1000 genomes]
rs73481217	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481223	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481228	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481288	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73483108	1.00[EUR][1000 genomes]
rs73483122	1.00[EUR][1000 genomes]
rs73485356	1.00[EUR][1000 genomes]
rs73487241	1.00[EUR][1000 genomes]
rs73487264	1.00[EUR][1000 genomes]
rs73487269	1.00[EUR][1000 genomes]
rs73489207	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73489232	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493331	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493345	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7982479	0.90[CHB][hapmap]
rs7990408	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7997347	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48666800-48669400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr13:48667000-48669400	Active TSS	K562	blood
3	chr13:48667600-48669400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr13:48667600-48669600	Active TSS	A549	lung
5	chr13:48667600-48670000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:48667800-48669200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr13:48667800-48669400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr13:48667800-48669400	Active TSS	NHLF	lung
9	chr13:48667800-48669600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:48667800-48669600	Active TSS	Right Atrium	heart
13	chr13:48667800-48669600	Active TSS	Right Ventricle	heart
14	chr13:48668000-48669000	Bivalent/Poised TSS	HepG2	liver
15	chr13:48668000-48669200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr13:48668000-48669400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr13:48668000-48669400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr13:48668000-48669400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:48668000-48669400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:48668000-48669400	Active TSS	Fetal Muscle Trunk	muscle
21	chr13:48668000-48669400	Active TSS	HSMMtube	muscle
22	chr13:48668000-48670000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:48668200-48669200	Active TSS	Lung	lung
24	chr13:48668200-48669200	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr13:48668200-48669200	Active TSS	Small Intestine	intestine
26	chr13:48668200-48669200	Active TSS	GM12878-XiMat	blood
27	chr13:48668200-48669400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:48668200-48669400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr13:48668200-48669400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:48668200-48669400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:48668200-48669400	Active TSS	Fetal Intestine Large	intestine
32	chr13:48668200-48669600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:48668200-48669600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:48668200-48669600	Active TSS	Aorta	Aorta
35	chr13:48668200-48669600	Active TSS	Left Ventricle	heart
36	chr13:48668200-48669800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr13:48668400-48669000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:48668400-48669200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:48668400-48669400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:48668400-48669400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:48668400-48669400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:48668400-48669400	Active TSS	Esophagus	oesophagus
43	chr13:48668400-48669400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr13:48668400-48669400	Active TSS	Fetal Stomach	stomach
45	chr13:48668400-48669400	Active TSS	Gastric	stomach
46	chr13:48668400-48669400	Active TSS	Stomach Mucosa	stomach
47	chr13:48668400-48669400	Active TSS	NHDF-Ad	bronchial
48	chr13:48668400-48669600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:48668400-48669600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr13:48668400-48669600	Active TSS	Muscle Satellite Cultured Cells	--

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